Freeman Sheldon Syndrome

Common Name(s)

Freeman Sheldon Syndrome, Cranio-Carpal-Tarsal Dystrophy, Craniocarpotarsal Dysplasia

Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations.  Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Freeman Sheldon Syndrome" for support, advocacy or research.

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Freeman Sheldon Syndrome" for support, advocacy or research.

Logo
Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Freeman Sheldon Syndrome" returned 13 free, full-text research articles on human participants. First 3 results:

The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
 

Author(s): Jonathan Walklate, Carlos Vera, Marieke J Bloemink, Michael A Geeves, Leslie Leinwand

Journal: J. Biol. Chem.. 2016 May;291(19):10318-31.

 

The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading ...

Last Updated: 20 May 2016

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The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
 

Author(s): Alice W Racca, Anita E Beck, Margaret J McMillin, F Steven Korte, Michael J Bamshad, Michael Regnier

Journal: Hum. Mol. Genet.. 2015 Jun;24(12):3348-58.

 

Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encode proteins of the contractile complex of skeletal muscle cells. Mutations are most frequently found in MYH3 and are predicted to ...

Last Updated: 20 May 2015

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Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome.
 

Author(s): Vishal Vyas, Riaz Agha, Tariq Ahmad

Journal:

 

Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality and 'pinched lips' in addition to extra-facial features such as kyphoscoliosis and hand deformities. Such ...

Last Updated: 14 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Freeman Sheldon Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 5 Apr 2017

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